Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition.

Savannah MwesigwaJoann M MouldsAlice ChenJonathan FlanaganVivien A SheehanAlex GeorgeNeil A Hanchard

Published in: Transfusion (2017)

Our results suggest a potential role for rare genetic defects in the development of HHS among adult SCD patients. Such enriched variants may ultimately be useful for identifying high-risk individuals and informing therapeutic approaches in HHS.

Keyphrases

sickle cell disease
end stage renal disease
ejection fraction
newly diagnosed
copy number
chronic kidney disease
prognostic factors
genome wide
gene expression
patient reported outcomes
patient reported